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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4880718          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001818.2:c.749A>G
NP_001809.2:p.Gln250Arg
NT_077567.3:g.5195025A>G
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss20716627 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4880718 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss6743859WI_SSAHASNP|NT_024115.13_5194735fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca02/12/0310/10/03111Genomicunknown
ss15595101SC_SNP|NT_077567.3_5195025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca11/17/0311/22/03120Genomicunknown
ss20716627SSAHASNP|WGSA-200403-chr10.chr10.NT_077567.3_5195025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca03/18/0403/19/04121Genomicunknown
ss28510916MGC_GENOME_DIFF|BC020744x37551026-A5195025Gfwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca08/25/0408/25/04126cDNAunknown
ss74893276ILLUMINA|ILMN_Human_1M_rs4880718fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca08/28/0708/29/07129Genomicunknown
ss77177870HGSV|Cor12156_SNV_20070510.chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca10/09/0710/11/07129Genomicunknown
ss78076761HGSV|Cor12878_SNV_20070510.chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca10/17/0710/17/07129Genomicunknown
ss81192792HGSV|Cor18555_SNV_20070510.chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca11/27/0711/28/07130Genomicunknown
ss81213181HGSV|Cor18507_SNV_20070510.chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca11/26/0711/28/07130Genomicunknown
ss84368317HGSV|Cor19129_SNV_20070510.chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca12/06/0712/07/07130Genomicunknown
ss88077029BCMHGSC_JDW|JWB-0227849fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca02/26/0802/27/08129Genomicunknown
ss97531715HUMANGENOME_JCVI|1103649848277fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca03/29/0803/29/08130Genomicunknown
ss106652553BGI|BGI_rs4880718fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca09/16/0806/17/09130Genomicunknown
ss1091878011000GENOMES|CEU.trio.12.15.2008_2283867_chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca12/15/0812/16/08130Genomicunknown
ss1152921291000GENOMES|NA19240_2008_12_16_2063993_chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca12/18/0812/19/08130Genomicunknown
ss118997692ILLUMINA-UK|NA18507_000008895_NCBI36.1_chr10_5245025fwd/TA/Gttctttgtgccttagcaaagaaacacaaacaaccccagccctgattgccctgcgctacca01/21/0901/22/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4880718|allelePos=308|totalLen=508|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AATGCCATTT TGATGAAAAA TTTTAGTTAT AGCATACTCA GTctcctaga gttcattctc
 aatgggtcag ggtaagggga taatttgcat ttcttatgag ataccaggtg atgctgctgc
 tgttcaggga cctcacttga gaGGCTCTGG TGCAGAATGA ACACCTTAGT CTGTTTAGGG
 AGCCTCCTAC CAAACTGAAT CCAGCCTCAA GACTTCAGCA TTTCTGGCTT TCCTTCCAGG
 GTGGACCCAA ACTCCCCAGT TCTTTTGGAG GACCCAGTTC TTTGTGCCTT AGCAAAGAAA
 CACAAAC
 R
 AACCCCAGCC CTGATTGCCC TGCGCTACCA GCTGCAGCGT GGGGTTGTGG TCCTGGCCAA
 GAGCTACAAT GAGCAGCGGA TCAGAGAGAA CATCCAGGTG AGGAGTTGGG TGGGCATCAG
 GGCTCCTGCA CAGTGTCCTT CACACGTGTG CTTCTTGTAA GGTTCTCAGG ACACCCTTGG
 ACTAAGTCCA CTTCCTGGGC

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_077567 ABBA01035201 BC020744
dbSNP Blast Analysis
UniGene Cluster ID
498514

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source G/G
 HWP G
ss20716627 HapMap-CEU European 116 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 86 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 116 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
603 459 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .